Cornelia De Lange Syndrome Latest Advances

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

Journal: bioRxiv : the preprint server for biology

Published: February 27, 2026

A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.

Journal: Clinical biochemistry

Published: February 12, 2026

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Journal: Genes

Published: January 10, 2026

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Journal: Research square

Published: January 09, 2026

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Journal: Behavioral sciences (Basel, Switzerland)

Published: December 22, 2025

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Journal: Cell death discovery

Published: December 17, 2025

Aberrant cohesin function in Saccharomyces cerevisiae activates Mcd1 degradation to promote cell lethality.

Journal: bioRxiv : the preprint server for biology

Published: December 04, 2025

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

Journal: AJNR. American journal of neuroradiology

Published: November 24, 2025

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

Journal: Cureus

Published: November 08, 2025

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: October 30, 2025

Cornelia De Lange Syndrome Latest Advances

Find the Latest Research About Cornelia De Lange Syndrome

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.

A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Aberrant cohesin function in Saccharomyces cerevisiae activates Mcd1 degradation to promote cell lethality.

Aberrant cohesin function in Saccharomyces cerevisiae activates Mcd1 degradation to promote cell lethality.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.